Early Screening for 22q.11.2 Deletion Syndrome

September 27, 2016

Insights into the Genetic Condition.

It’s called 22q11.2 deletion syndrome also known as DiGeorge syndrome. Symptoms include many types of heart defects and palatal differences, with nearly a third of those affected with 22q having kidney problems as well. Many newborns diagnosed with 22q are saddled with immune system problems leading to trouble with infections or vaccines and more. The Balancing Act welcomes Dr. Kimberly Martin, whose special insights into the genetic condition of 22q helps to explain the advantages early screening can bring. Also joining us in the segment is Sheila Kambin, mother of a child with 22q. She shares her challenges and victories of dealing with this diagnosis. We explore why early diagnosis of 22q and prenatal screening is so vital in helping cope with the challenges life throws us.